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Biomedical subjects

C Vullo

Publications and source records attributed to C Vullo.

At least 73 records · Page 4Linked to original sources
PubMed1987

Red-cell GSH regeneration and glutathione reductase activity in G6PD variants in the Ferrara area.

Red-cell studies were carried out on three groups of G6PD-deficient subjects with different G6PD variants from the Ferrara area of Northern Italy. Red-cell GSH and activities of G6PD, glutathione reductase (GR), glutathione peroxidase (GPx) and superoxide dismutase (SOD) were measured. A method was developed to measure red-cell GSH regeneration after oxidation of endogenous GSH in whole blood by diamide and only this clearly distinguished the variants from each other and from normal. Regeneration by 1 h was lowest in the Mediterranean variant, 0-10.2% in contrast to 93-98% in normal. A predisposition to a haemolytic crisis after ingestion of fava beans was not clearcut, but subjects appeared to be at risk if GSH regeneration at 1 h was less than 30% of the endogenous level, and red-cell FAD+ was very high indicated by high in vitro GR activity and inhibition by added FAD+. It is suggested that the most informative tests in G6PD deficiency are measurements of GSH regeneration in intact red cells plus GR activity and/or red-cell flavin compounds.

Adolescent↗
PubMed1987

Biological performance in beta-thal heterozygotes and normals: results of a longitudinal comparison in a former malarial environment.

Families of beta-thal heterozygotes and of normals studied in 1956 by Silvestroni and Bianco in the small town of Berra near Ferrara were studied again in 1981-85. It was possible to compare mortality, fertility, and migration, in the two groups of heterozygotes and normals after the lapse of one generation. At the power of resolution of the sample available and of the methods used, no difference was visible. However, it was possible to establish the upper limits of the differences in average age at death and in average fertility at the 5% level of significance.

Age Factors↗
PubMed1987

Glutathione reductase activity and its relationship to pyridoxine phosphate activity in G6PD deficiency.

Per cent stimulation of GR activity by FAD in vitro and PNP oxidase activity were measured in G6PD deficiency, heterozygous beta-thalassaemia and controls. It is confirmed that, in contrast to the high stimulation of GR by FAD commonly found in in thalassaemia indicating red-cell deficiency of FAD, and shown here to be greater in the Italian subjects, GR is usually saturated with FAD in G6PD deficiency, leading to high in vitro activity. Unexpectedly, on the other hand, low FMN-dependent PNP oxidase activity due to red-cell deficiency of FMN, confirmed by response to oral riboflavin, was found in the majority of subjects with G6PD deficiency, similar to that found in heterozygous beta-thalassaemia. Whereas this is explained in thalassaemia by an inherited slow red-cell metabolism of riboflavin to FMN, it is suggested that in G6PD deficiency an increased rate of red-cell metabolism of FMN to FAD leads to the low FMN and high FAD. When G6PD deficiency occurs with heterozygous beta-thalassaemia, GR is usually saturated with FAD as in G6PD deficiency alone, unless there is an inherited, very slow red-cell metabolism of riboflavin to FMN. The part played by GR in haemolytic crises in G6PD deficiency is discussed.

Erythrocytes↗
PubMed1985

Growth and sexual maturation in thalassemia major.

Growth and sexual development were evaluated in 250 adolescents with beta-thalassemia major. Before transfusion hemoglobin concentration had not been less than 9.5 gm/dl in the last 5 years; desferrioxamine had been administered for 7 to 10 years, including by the subcutaneous route for 3 years. Thirty-seven percent of patients were found to be 2 SD below the mean for normal height; after age 14 years the percentage was 62% for males and 35% for females. Eighty-three percent of males and 75% of females had delayed skeletal maturation. Complete lack of pubescent changes was present in 38% of females and 67% of males aged 12 to 18 years. Only 19% of females had experienced menarche; secondary amenorrhea intervened in a third of them. A multiple regression analysis of indicators of pubertal development with age, age at first transfusion, age at splenectomy, number of transfusions, serum transaminase and ferritin, and duration and intensity of chelation therapy failed to identify the factors responsible for the variation observed in sexual maturation among patients with thalassemia.

Adolescent↗
PubMed1985

Altered T cell subsets and function in polytransfused beta-thalassemia patients: correlation with sex and age at first transfusion.

Monoclonal antibodies (OKT series) have been used to investigate possible modifications of T lymphocytes and T lymphocyte subsets in 65 multiply transfused beta-thalassemia patients. No significant difference was observed in percentage and absolute number of OKT3-, OKT4-, and OKT8-positive cells when compared to controls. A subgroup of patients (10 patients, 15.3%), however, could be selected who showed a reversal of OKT4/OKT8 ratio. These patients did not differ from the others as to age, number of transfusions, frequency of splenectomy, ferritin levels, hepatitis B markers, chronic liver disease incidence, and numbers of B lymphocytes and natural killer cells. The features distinguishing this group from the remaining patients were: decreased mitogen responsiveness; early age when first transfused; high incidence of males (90%). Immunological investigation was done in 2 occasions, 1 year apart, but no significant modification was observed in these patients. These findings suggest that in beta-thalassemia patients transfusion therapy started very early in life may be responsible for persistent immunological modifications. The susceptibility to such modifications might be greater in males.

Adolescent↗
PubMed1985

Antibodies to HTLV-III and the lymphadenopathy syndrome in multitransfused beta-thalassemia patients.

Antibodies to HTLV-III have been investigated in 118 multitransfused beta-thalassemia patients. Thirteen patients (11.01%) were found to be positive; 3 of these 13 showed clinical and immunological signs of the lymphadenopathy syndrome. A retrospective study carried out on 65 sera has shown that at least 6 patients were negative 3 years before the present investigation. This is the first extensive study on HTLV-III infection in multitransfused beta-thalassemics. It suggests that these patients are at risk for the acquired immune deficiency syndrome and related diseases.

Acquired Immunodeficiency Syndrome↗
PubMed1985

beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis.

Six beta(+)-thalassaemic patients from the Po river delta region have been studied. Using synthetic oligonucleotides as specific hybridisation probes, the beta(+) IVS I mutation (G----A at position 108) was demonstrated. This lesion and the enzyme polymorphism pattern in the subjects examined are the same as have been described for other Mediterranean beta(+)-thalassaemias. Antenatal diagnosis through DNA analysis of beta(+)-thalassaemia is therefore possible. The production of beta globin in a beta(+), homozygote and in a beta (+), beta(0) 39 (nonsense mutation at codon 39) double heterozygote is approximately 20% and 10% respectively of total non-alpha globin synthesis. Despite some overlapping of the results, similar beta globin synthesis levels have been obtained in 43 beta(+)-thalassaemia patients. This suggests that in the Po river delta region the most common thalassaemic genes are beta(0) 39 and beta(+) IVS I.

Autoradiography↗
PubMed1985

Alpha and beta cell evaluation in patients with thalassaemia intermedia and iron overload.

Insulin and glucagon secretion were studied during an oral glucose tolerance test and arginine infusion in 11 patients with thalassaemia intermedia, who showed laboratory evidence of iron overload. Mean blood glucose concentrations in patients with thalassaemia intermedia were significantly higher than normal and 3 of 11 patients had impaired glucose tolerance. The principal abnormality appears to be a deficiency in insulin and glucagon from the pancreas in response to oral glucose tolerance and arginine stimulation tests. Several factors, such as iron overload, chronic hypoxia, zinc deficiency and increased catecholamine production secondary to anaemia, might play a part in the pathogenesis of these abnormalities. Each of these factors affect individual cases to a varied degree. Our data emphasize the mildness of carbohydrate defect as compared to the degree of insulinopenia and indicate the necessity for prescribing measures which prevent excessive iron deposition and improve iron excretion in thalassaemic patients with iron overload.

Adult↗
PubMed1984

Impaired HLA capping capacity of peripheral blood lymphocytes in Duchenne muscular dystrophy.

The cap capacity in nine Duchenne muscular dystrophy (DMD) patients and in 23 healthy male subjects (14 adults and nine neonates) has been investigated by inducing capping of HLA molecules. The evaluation of capping percentages ranged in healthy controls from 44 to 61 with a mean value of 53.39 +/- 4.89, while DMD patients displayed cap capacity of percentages varying from 15 to 38 with a mean value of 31.5 +/- 7.42. Statistical significance of the differences between the two groups, assessed by the Mann-Whitney U test, was p less than 0.00003. A correlation was found in DMD patients between cap capacity and age (tau = +0.657, p = 0.012). The results confirm previous reports of Ig capping impairment noted in B cells of the whole lymphocyte population, supporting the hypothesis of a systemic cellular defect in DMD patients. The data obtained suggest that HLA capping could overcome some of the technical difficulties of Ig capping and could be used as a diagnostic aid in antenatal detection of DMD.

Adult↗
PubMed1984

Erythropoietin levels in heterozygous beta-thalassemia.

In the present work the capacity of serum of beta-thalassemic heterozygous and normal subjects to stimulate 59Fe uptake into heme in guinea pig bone marrow cultures is analyzed. The results show that labelled iron uptake is higher in cultures with thalassemic serum than in cultures with normal serum. No correlation between labelled iron uptake and Hb level or sex has been found in either group.

Adult↗
PubMed1984

Changes in superoxide anion production in neutrophils from multitransfused beta-thalassemia patients: correlation with ferritin levels and liver damage.

Superoxide anion production in resting and PMA- or zymosan-stimulated neutrophils was evaluated in 21 beta-thalassemia patients. The results were correlated with ferritin values, hepatitis B virus serum markers, liver pathology, immunoglobulin levels and T-cell subsets. Superoxide anion generation from resting or PMA-stimulated neutrophils was significantly higher in patients than in controls. On the contrary, zymosan-stimulated neutrophils showed reduced superoxide anion production. Increased superoxide anion production in resting neutrophils showed a significant correlation to the values of ferritin. In addition, patients with biopsy-proven chronic liver disease showed significantly increased ferritin levels and superoxide anion production as compared to the remaining patients. No correlation was observed between superoxide anion production and the presence or the absence of hepatitis B virus serum markers, immunoglobulin levels and T-cell subsets. A possible role of interreactions between iron and oxygen radicals in determining liver damage in beta-thalassemia patients is suggested.

Adolescent↗
PubMed1984

Raised IgE levels in beta-thalassaemia: correlation with splenectomy and hepatitis B virus infection.

IgE values obtained in 117 beta-thalassaemia patients were significantly higher than in age matched normal subjects. In 31 patients (26.5%) IgE levels were above 2 s.d. of normal values for age, but the frequency of IgE with reaginic activity was lower in patients (5.1%) than in controls (11.9%). The highest values were observed in splenectomized patients who were also positive for one or more serological markers of hepatitis B virus infection. The increase of IgE levels was directly correlated with the number of years after splenectomy, and patients with biopsy proven chronic liver disease had higher IgE levels than those without evidence of liver damage. On the other hand, IgE levels were not correlated with the number of transfusions, age, IgG, IgA, IgM levels or T cell subsets and mitogen responsiveness. These results show that beta-thalassaemia patients develop elevated IgE levels to which splenectomy and hepatitis B virus infection contribute in a synergistic manner.

Adolescent↗
PubMed1984

Beta-thalassemia in the Po Delta: selection, geography, and population structure.

The allele frequencies for beta-thalassemia for 51 localities in the province of Rovigo, and in 25 localities in the province of Ferrara, were studied. It was observed that in the province of Ferrara there is a significant cline of frequencies; these decrease from the coast of the Adriatic Sea toward the west. No such gradient was visible in Rovigo. It was advanced, also on the basis of geography documented by ancient maps, that in the province of Rovigo there were multiple foci of selection for the thalassemia gene, and that in the province of Ferrara selection was stronger in the Oriental part of the area. Examination of the isolation by distance model with these data showed that the Malécot-Morton model fits for the Ferrara data and geography, whereas it does not for Rovigo.

Alleles↗